Sickle Cell Disease in Children and Adolescents: A Review of the Historical, Clinical, and Public Health Perspective of Sub-Saharan Africa and Beyond
Sickle cell disease (SCD) is an umbrella term for a group of life-long debilitating autosomal recessive disorders that are caused by a single-point mutation (Glu→Val) that results in polymerization of hemoglobin (Hb) and reversible sickle-shape deformation of erythrocytes. This leads to increased he...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Hindawi Limited
2022-01-01
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| Series: | International Journal of Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2022/3885979 |
| _version_ | 1811182628692295680 |
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| author | Walufu Ivan Egesa Gloria Nakalema William M. Waibi Munanura Turyasiima Emmanuel Amuje Gloria Kiconco Simon Odoch Patrick Kumbowi Kumbakulu Said Abdirashid Daniel Asiimwe |
| author_facet | Walufu Ivan Egesa Gloria Nakalema William M. Waibi Munanura Turyasiima Emmanuel Amuje Gloria Kiconco Simon Odoch Patrick Kumbowi Kumbakulu Said Abdirashid Daniel Asiimwe |
| author_sort | Walufu Ivan Egesa |
| collection | DOAJ |
| description | Sickle cell disease (SCD) is an umbrella term for a group of life-long debilitating autosomal recessive disorders that are caused by a single-point mutation (Glu→Val) that results in polymerization of hemoglobin (Hb) and reversible sickle-shape deformation of erythrocytes. This leads to increased hemolysis of erythrocytes and microvascular occlusion, ischemia-reperfusion injury, and tissue infarction, ultimately causing multisystem end-organ complications. Sickle cell anemia (HbSS) is the most common and most severe genotype of SCD, followed by HbSC, HbSβ0thalassemia, HbSβ+thalassemia, and rare and benign genotypes. Clinical manifestations of SCD occur early in life, are variable, and are modified by several genetic and environmental factors. Nearly 500 children with SCD continue to die prematurely every day, due to delayed diagnosis and/or lack of access to comprehensive care in sub-Saharan Africa (SSA), a trend that needs to be urgently reversed. Despite proven efficacy in developed countries, newborn screening programs are not universal in SSA. This calls for a consolidated effort to make this possible, through the use of rapid, accurate, and cheap point-of-care test kits which require minimal training. For almost two decades, hydroxyurea (hydroxycarbamide), a century-old drug, was the only disease-modifying therapy approved by the U.S. Food and Drug Administration. Recently, the list expanded to L-glutamine, crizanlizumab, and voxelotor, with several promising novel therapies in the pipeline. Despite its several limitations, hematopoietic stem cell transplant (HSCT) remains the only curative intervention for SCD. Meanwhile, recent advances in gene therapy trials offer a glimpse of hope for the near future, although its use maybe limited to developed countries for several decades. |
| first_indexed | 2024-04-11T09:35:01Z |
| format | Article |
| id | doaj.art-f0b6306ae02f4fba9831ec12dd545b85 |
| institution | Directory Open Access Journal |
| issn | 1687-9759 |
| language | English |
| last_indexed | 2024-04-11T09:35:01Z |
| publishDate | 2022-01-01 |
| publisher | Hindawi Limited |
| record_format | Article |
| series | International Journal of Pediatrics |
| spelling | doaj.art-f0b6306ae02f4fba9831ec12dd545b852022-12-22T04:31:44ZengHindawi LimitedInternational Journal of Pediatrics1687-97592022-01-01202210.1155/2022/3885979Sickle Cell Disease in Children and Adolescents: A Review of the Historical, Clinical, and Public Health Perspective of Sub-Saharan Africa and BeyondWalufu Ivan Egesa0Gloria Nakalema1William M. Waibi2Munanura Turyasiima3Emmanuel Amuje4Gloria Kiconco5Simon Odoch6Patrick Kumbowi Kumbakulu7Said Abdirashid8Daniel Asiimwe9Department of PediatricsDepartment of Pediatrics & Child HealthDepartment of Pediatrics & Child HealthDepartment of Pediatrics & Child HealthDepartment of PediatricsDepartment of Pediatrics & Child HealthDepartment of Pediatrics & Child HealthDepartment of Pediatrics & Child HealthDepartment of Pediatrics & Child HealthDepartment of SurgerySickle cell disease (SCD) is an umbrella term for a group of life-long debilitating autosomal recessive disorders that are caused by a single-point mutation (Glu→Val) that results in polymerization of hemoglobin (Hb) and reversible sickle-shape deformation of erythrocytes. This leads to increased hemolysis of erythrocytes and microvascular occlusion, ischemia-reperfusion injury, and tissue infarction, ultimately causing multisystem end-organ complications. Sickle cell anemia (HbSS) is the most common and most severe genotype of SCD, followed by HbSC, HbSβ0thalassemia, HbSβ+thalassemia, and rare and benign genotypes. Clinical manifestations of SCD occur early in life, are variable, and are modified by several genetic and environmental factors. Nearly 500 children with SCD continue to die prematurely every day, due to delayed diagnosis and/or lack of access to comprehensive care in sub-Saharan Africa (SSA), a trend that needs to be urgently reversed. Despite proven efficacy in developed countries, newborn screening programs are not universal in SSA. This calls for a consolidated effort to make this possible, through the use of rapid, accurate, and cheap point-of-care test kits which require minimal training. For almost two decades, hydroxyurea (hydroxycarbamide), a century-old drug, was the only disease-modifying therapy approved by the U.S. Food and Drug Administration. Recently, the list expanded to L-glutamine, crizanlizumab, and voxelotor, with several promising novel therapies in the pipeline. Despite its several limitations, hematopoietic stem cell transplant (HSCT) remains the only curative intervention for SCD. Meanwhile, recent advances in gene therapy trials offer a glimpse of hope for the near future, although its use maybe limited to developed countries for several decades.http://dx.doi.org/10.1155/2022/3885979 |
| spellingShingle | Walufu Ivan Egesa Gloria Nakalema William M. Waibi Munanura Turyasiima Emmanuel Amuje Gloria Kiconco Simon Odoch Patrick Kumbowi Kumbakulu Said Abdirashid Daniel Asiimwe Sickle Cell Disease in Children and Adolescents: A Review of the Historical, Clinical, and Public Health Perspective of Sub-Saharan Africa and Beyond International Journal of Pediatrics |
| title | Sickle Cell Disease in Children and Adolescents: A Review of the Historical, Clinical, and Public Health Perspective of Sub-Saharan Africa and Beyond |
| title_full | Sickle Cell Disease in Children and Adolescents: A Review of the Historical, Clinical, and Public Health Perspective of Sub-Saharan Africa and Beyond |
| title_fullStr | Sickle Cell Disease in Children and Adolescents: A Review of the Historical, Clinical, and Public Health Perspective of Sub-Saharan Africa and Beyond |
| title_full_unstemmed | Sickle Cell Disease in Children and Adolescents: A Review of the Historical, Clinical, and Public Health Perspective of Sub-Saharan Africa and Beyond |
| title_short | Sickle Cell Disease in Children and Adolescents: A Review of the Historical, Clinical, and Public Health Perspective of Sub-Saharan Africa and Beyond |
| title_sort | sickle cell disease in children and adolescents a review of the historical clinical and public health perspective of sub saharan africa and beyond |
| url | http://dx.doi.org/10.1155/2022/3885979 |
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